ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5068G>C (p.Val1690Leu)

dbSNP: rs752352756
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cancer Genomics Group, Japanese Foundation For Cancer Research RCV001030554 SCV001193598 uncertain significance Hereditary breast ovarian cancer syndrome 2019-05-01 criteria provided, single submitter research
Invitae RCV001059828 SCV001224476 uncertain significance Fanconi anemia 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1690 of the FANCM protein (p.Val1690Leu). This variant is present in population databases (rs752352756, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 830262). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sema4, Sema4 RCV002256644 SCV002529871 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-02 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002479229 SCV002777718 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-02-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002552438 SCV003577127 uncertain significance Inborn genetic diseases 2021-10-06 criteria provided, single submitter clinical testing The c.5068G>C (p.V1690L) alteration is located in exon 20 (coding exon 20) of the FANCM gene. This alteration results from a G to C substitution at nucleotide position 5068, causing the valine (V) at amino acid position 1690 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV003153894 SCV003842588 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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